Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E873_G874del2

RPGR

940 papers

RefSeq Summary

This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body an...

Pfam Domains

WD40_RLDaa 13–363UCSCRCC1-like domain

Gene Aliases

HGNC Name

retinitis pigmentosa GTPase regulator

HGNC Previous Symbols

CRD; RP3; RP15; COD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001034853.2
p.E873_G874del2
c.2617_2621del6
Surrounding Variants
6 papers
NM_001034853.2
p.E877fs
c.2629_2630fs
10 papers
NM_001034853.2
p.E875insFs
c.2625dupA
2 papers
NM_001034853.2
p.G876R
c.2626G>C
2 papers
NM_001034853.2
p.G876R
c.2626G>A
4 papers
NM_001034853.2
p.G876fs
c.2626_2627fs
8 papers
NM_001034853.2
p.G876_E877delFs
c.2628_2629delCC
2 papers
NM_001034853.2
p.E877fs
c.2629_2630fs
5 papers
NM_001034853.2
p.E877delFs
c.2630delT
1 paper
NM_001034853.2
p.E873_G878ins2
c.2618_2632dup15
1 paper
NM_001034853.2
p.E869_G878ins3
c.2606_2632dup27
1 paper
NM_001034853.2
p.G878E
c.2633G>A
2 papers
NM_001034853.2
p.E875fs
c.2623_2624fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."